An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala)

被引：44

作者：

Pasalar, P

Najmabadi, H

Noorian, AR

Moghimi, B

Jannati, A

Soltanzadeh, A

Krefft, T

Crook, R

Hardy, J

机构：

[1] NIA, Neurogenet Lab, NIH, Bethesda, MD 20817 USA

[2] Univ Tehran Med Sci, Dept Biochem, Tehran, Iran

[3] Univ Tehran Med Sci, Sch Med, Tehran, Iran

[4] Univ Social Welfare & Rehabil, Dept Genet, Tehran, Iran

[5] Univ Tehran Med Sci, Shariati Hosp, Dept Neurol, Tehran, Iran

[6] Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA

[7] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA

来源：

NEUROLOGY | 2002年 / 58卷 / 10期

关键词：

D O I：

10.1212/WNL.58.10.1574

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：1574 / 1575

页数：2

共 6 条

[1] A new pathogenic mutation in the APP gene (1716V) increases the relative proportion of A beta 42(43) [J].

Eckman, CB ;

Mehta, ND ;

Crook, R ;

Pereztur, J ;

Prihar, G ;

Pfeiffer, E ;

GraffRadford, N ;

Hinder, P ;

Yager, D ;

Zenk, B ;

Refolo, LM ;

Prada, CM ;

Younkin, SG ;

Hutton, M ;

Hardy, J .

HUMAN MOLECULAR GENETICS, 1997, 6 (12) :2087-2089

[2] SEGREGATION OF A MISSENSE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE WITH FAMILIAL ALZHEIMERS-DISEASE [J].

GOATE, A ;

CHARTIERHARLIN, MC ;

MULLAN, M ;

BROWN, J ;

CRAWFORD, F ;

FIDANI, L ;

GIUFFRA, L ;

HAYNES, A ;

IRVING, N ;

JAMES, L ;

MANT, R ;

NEWTON, P ;

ROOKE, K ;

ROQUES, P ;

TALBOT, C ;

PERICAKVANCE, M ;

ROSES, A ;

WILLIAMSON, R ;

ROSSOR, M ;

OWEN, M ;

HARDY, J .

NATURE, 1991, 349 (6311) :704-706

[3] Presenilin mutations line up along transmembrane α-helices [J].

Hardy, J ;

Crook, R .

NEUROSCIENCE LETTERS, 2001, 306 (03) :203-205

[4] Nonfibrillar diffuse amyloid deposition due to a γ42-secretase site mutation points to an essential role for N-truncated Aβ42 in Alzheimer's disease [J].

Kumar-Singh, S ;

De Jonghe, C ;

Cruts, M ;

Kleinert, R ;

Wang, R ;

Mercken, M ;

De Strooper, B ;

Vanderstichele, H ;

Löfgren, A ;

Vanderhoeven, I ;

Backhovens, H ;

Vanmechelen, E ;

Kroisel, PM ;

Van Broeckhoven, C .

HUMAN MOLECULAR GENETICS, 2000, 9 (18) :2589-2598

[5] CLINICAL COMPARISON OF ALZHEIMERS-DISEASE IN PEDIGREES WITH THE CODON-717 VAL-]ILE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE [J].

MULLAN, M ;

TSUJI, S ;

MIKI, T ;

KATSUYA, T ;

NARUSE, S ;

KANEKO, K ;

SHIMIZU, T ;

KOJIMA, T ;

NAKANO, I ;

OGIHARA, T ;

MIYATAKE, T ;

OVENSTONE, I ;

CRAWFORD, F ;

GOATE, A ;

HARDY, J ;

ROQUES, P ;

ROBERTS, G ;

LUTHERT, P ;

LANTOS, P ;

CLARK, C ;

GASKELL, P ;

CRAIN, B ;

ROSES, A .

NEUROBIOLOGY OF AGING, 1993, 14 (05) :407-419

[6] Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease [J].

Scheuner, D ;

Eckman, C ;

Jensen, M ;

Song, X ;

Citron, M ;

Suzuki, N ;

Bird, TD ;

Hardy, J ;

Hutton, M ;

Kukull, W ;

Larson, E ;

LevyLahad, E ;

Viitanen, M ;

Peskind, E ;

Poorkaj, P ;

Schellenberg, G ;

Tanzi, R ;

Wasco, W ;

Lannfelt, L ;

Selkoe, D ;

Younkin, S .

NATURE MEDICINE, 1996, 2 (08) :864-870

← 1 →